PPKDFN
MCID: KRT058
MIFTS: 43
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Keratoderma, Palmoplantar, with Deafness (PPKDFN)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Keratoderma, Palmoplantar, with Deafness:
Characteristics:Orphanet epidemiological data:58
palmoplantar keratoderma-deafness syndrome
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
allelic to deafness, autosomal recessive 1, , deafness, autosomal dominant 3, , vohwinkel syndrome, , keratitis-ichthyosis-deafness syndrome, , hystrix-like ichthyosis with deafness, , bart-pumphrey syndrome, HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Ear diseases Skin diseases
ICD10:
33
Orphanet: 58
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2202DefinitionPalmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.Visit the Orphanet disease page for more resources.
MalaCards based summary : Keratoderma, Palmoplantar, with Deafness, also known as palmoplantar keratoderma-deafness syndrome, is related to keratitis-ichthyosis-deafness syndrome, autosomal dominant and nonsyndromic hearing loss and deafness, dfna3. An important gene associated with Keratoderma, Palmoplantar, with Deafness is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and palmoplantar keratoderma Disease Ontology : 12 A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has material basis in heterozygous mutation in GJB2 on chromosome 13q12.11. MedlinePlus Genetics : 43 Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds.The signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others developing only hearing loss. KEGG : 36 Palmoplantar keratoderma with deafness is a Cx26 disorder characterized by sensorineural hearing loss and palmoplantar keratoderma as observed for other Cx26 syndromic deafness disorders such as Vohwinkel syndrome and Bart-Pumphrey syndrome. UniProtKB/Swiss-Prot : 73 Keratoderma, palmoplantar, with deafness: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness.
More information from OMIM:
148350
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Human phenotypes related to Keratoderma, Palmoplantar, with Deafness:58 31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:148350 (Updated 05-Mar-2021)MGI Mouse Phenotypes related to Keratoderma, Palmoplantar, with Deafness:46
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Cochrane evidence based reviews: palmoplantar keratoderma with deafness |
MalaCards organs/tissues related to Keratoderma, Palmoplantar, with Deafness:40
Skin
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Articles related to Keratoderma, Palmoplantar, with Deafness:(show all 24)
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ClinVar genetic disease variations for Keratoderma, Palmoplantar, with Deafness:6 (show all 30)
UniProtKB/Swiss-Prot genetic disease variations for Keratoderma, Palmoplantar, with Deafness:73
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Search
GEO
for disease gene expression data for Keratoderma, Palmoplantar, with Deafness.
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Pathways related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:
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Cellular components related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:
Biological processes related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Keratoderma, Palmoplantar, with Deafness according to GeneCards Suite gene sharing:
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